Hoyeraal-Hreidarsson syndrome

Epidemiology

• affects males

Pathology

• multisystem disorder

Genetics

• associated with defects in DKC1

Clinical manifestations

• aplastic anemia
• immunodeficiency
• microcephaly
• cerebellar hypoplasia
• growth retardation

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/300240